neonatal intrahepatic cholestasis due to citrin deficiency


familial or sporadic hemiplegic migraine

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


acute myeloid leukemia, t(10;11)(p12;q23)


severe combined immunodeficiency due to CORO1A deficiency


frontotemporal dementia and/or amyotrophic lateral sclerosis 2


suprabasal epidermolysis bullosa simplex


hypogonadotropic hypogonadism 27 without anosmia


overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes


juvenile cataract-microcornea-renal glucosuria syndrome


autosomal recessive spinocerebellar ataxia 16


incessant infant ventricular tachycardia


congenital dyserythropoietic anemia type 4


46,XX disorder of sex development induced by maternal-derived androgen


proximal myopathy with extrapyramidal signs


severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency


partial duplication of the long arm of chromosome 12


anti-neutrophil antibody associated vasculitis


ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant


hereditary motor and sensory neuropathy, Okinawa type


infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome


lymphoblastic leukemia, acute, with lymphomatous features


frontotemporal dementia and/or amyotrophic lateral sclerosis 3


congenital vitamin K-dependent coagulation factors deficiency


hemolytic anemia with thermal sensitivity of red cells


enthesitis-related juvenile idiopathic arthritis


pituitary hormone deficiency, combined, 6


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3


cataract-intellectual disability-anal atresia-urinary defects syndrome


Dianzani autoimmune lymphoproliferative disease


syndromic X-linked intellectual disability 14


hereditary sensory and autonomic neuropathy type 1


partial duplication of the short arm of chromosome 17


agammaglobulinemia 10, autosomal dominant


mitochondrial complex 1 deficiency, nuclear type 22


developmental and epileptic encephalopathy, 7


uterine corpus mixed epithelial and mesenchymal neoplasm


X-linked intellectual disability-plagiocephaly syndrome


ocular albinism with late-onset sensorineural deafness


sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis


linear skin defects with multiple congenital anomalies 1


congenital stationary night blindness 2A


polyneuropathy in collagen vascular disease


hereditary thrombocytosis with transverse limb defect


chorea, remitting, with nystagmus and cataract


hypertrophic osteoarthropathy, primary, autosomal recessive, 1


primary non-gestational choriocarcinoma of ovary


hereditary hypophosphatemic rickets with hypercalciuria


46,XX disorder of sex development induced by androgens excess


theca steroid-producing cell malignant tumor of ovary, not further specified


transient bullous dermolysis of the newborn


pontine autosomal dominant microangiopathy with leukoencephalopathy


isolated ankyloblepharon filiforme adnatum


DeSanto-Shinawi syndrome due to WAC point mutation


B4GALT1-congenital disorder of glycosylation


mitochondrial complex 1 deficiency, nuclear type 3


neonatal encephalopathy with non-epileptic myoclonus


autosomal recessive nonsyndromic congenital nuclear cataract


mitochondrial dna depletion syndrome 16B (neuroophthalmic type)


atypical childhood epilepsy with centrotemporal spikes


short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans


congenital heart defects, multiple types, 5


qualitative or quantitative defects of beta-sarcoglycan


mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive


mitochondrial complex 1 deficiency, nuclear type 5


ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder


overgrowth syndrome with 2q37 translocation


pure or complex X-linked spastic paraplegia


combined immunodeficiency due to STIM1 deficiency


Tay-Sachs disease, b variant, adult form


2p21 microdeletion syndrome without cystinuria


hyperuricemic nephropathy, familial juvenile type 3


frontotemporal dementia and/or amyotrophic lateral sclerosis 5


neurofibromatosis type 1 due to NF1 mutation or intragenic deletion


peroxisome biogenesis disorder 3A (Zellweger)


lissencephaly type 1 due to doublecortin gene mutation


lissencephaly type 3-familial fetal akinesia sequence syndrome


disease predisposing to age-related macular degeneration


autosomal dominant hereditary sensory and autonomic neuropathy


striatonigral degeneration, infantile, mitochondrial


qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase


autosomal dominant nonsyndromic hearing loss 69


developmental and epileptic encephalopathy


autosomal recessive distal renal tubular acidosis


myeloid and lymphoid neoplasms associated with FGFR1 abnormalities


congenital heart defect-round face-developmental delay syndrome


acute inferolateral myocardial infarction


autosomal dominant nonsyndromic hearing loss 4B


distal 7q11.23 microduplication syndrome


neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities


Finnish upper limb-onset distal myopathy


intellectual developmental disorder with neuropsychiatric features


cerebroretinal microangiopathy with calcifications and cysts 1


qualitative or quantitative defects of merosin


axonal hereditary motor and sensory neuropathy


autosomal dominant nocturnal frontal lobe epilepsy


familial hyperreninemic hypoaldosteronism type 2


peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome


mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)


pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa


recessive dystrophic epidermolysis bullosa


mucopolysaccharidosis or mucopolysaccharidosis-like disorder


Ehlers-Danlos syndrome, periodontal type 1


hypouricemia, hypercalcinuria, and decreased bone density


distal myopathy with posterior leg and anterior hand involvement


thyroid hormone resistance, generalized, autosomal recessive


autosomal recessive degenerative and progressive cerebellar ataxia


complex neurodevelopmental disorder with or without congenital anomalies


drug-induced autoimmune hemolytic anemia


syndrome caused by partial chromosomal duplication


mitochondrial pyruvate carrier deficiency


absent tibia-polydactyly-arachnoid cyst syndrome


autosomal recessive complex spastic paraplegia


acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)


glycogen storage disease due to lactate dehydrogenase deficiency


autosomal recessive metabolic cerebellar ataxia


pseudoxanthomatous diffuse cutaneous mastocytosis


intellectual developmental disorder, autosomal dominant 63, with macrocephaly


hyper-IgE recurrent infection syndrome 3, autosomal recessive


blindness - scoliosis - arachnodactyly syndrome


multiple pterygium-malignant hyperthermia syndrome


autosomal dominant spastic paraplegia type 9


combined oxidative phosphorylation defect type 2


diffuse large B-cell lymphoma with chronic inflammation


multiple benign circumferential skin creases on limbs


microcephaly 27, primary, autosomal dominant


thrombocytopenia with congenital dyserythropoietic anemia


developmental and epileptic encephalopathy, 75


complex cortical dysplasia with other brain malformations 5


partial deletion of the long arm of chromosome 15


congenital stationary night blindness 1A


inborn disorder of neurotransmitter metabolism and transport


spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder


spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome


acute myeloid leukemia, RUNX1 gene mutation


mitochondrial complex III deficiency nuclear type 6


ectopia lentis 1, isolated, autosomal dominant


mitochondrial complex 4 deficiency, nuclear type 4


neuromyelitis optica spectrum disorder with anti-AQP4 antibodies


glycosylphosphatidylinositol biosynthesis defect 17


adult-onset autosomal dominant demyelinating leukodystrophy


syndromic X-linked intellectual disability 12


neurodevelopmental disorder with absent language and variable seizures


linear skin defects with multiple congenital anomalies


quantitative and/or qualitative congenital phagocyte defect


horizontal gaze palsy with progressive scoliosis


adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency


short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome


Autosomal dominant epilepsy with auditory features


ossification of the posterior longitudinal ligament of the spine


spondylocostal dysostosis 6, autosomal recessive


familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome


recurrent Neisseria infections due to factor D deficiency


combined immunodeficiency due to CRAC channel dysfunction


infectious, fungal or parasitic myopathy


short stature-optic atrophy-Pelger-HuC+t anomaly syndrome


congenital stationary night blindness 1E


disorder of defective peroxisomal and mitochondrial fission


bile acid CoA ligase deficiency and defective amidation


primary non-essential cutis verticis gyrata


extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor


epidermolysis bullosa simplex 6, generalized, with scarring and hair loss


autosomal recessive nonsyndromic hearing loss 53


cystic malformation of the posterior fossa


channelopathy-associated congenital insensitivity to pain, autosomal recessive


46,XX disorder of sex development-skeletal anomalies syndrome


mitochondrial complex 1 deficiency, nuclear type 17


intellectual disability, autosomal recessive 42


parasitic Ichthyosporea infectious disease


acute megakaryoblastic leukemia without down syndrome


melanoma, cutaneous malignant, susceptibility to, 1


paternal 14q32.2 hypomethylation syndrome


atypical hemolytic-uremic syndrome with I factor anomaly


autoimmune disorder of cardiovascular system


fatal post-viral neurodegenerative disorder


polyarticular juvenile idiopathic arthritis


spondyloepiphyseal dysplasia with punctate corneal dystrophy


intellectual developmental disorder with dysmorphic facies and behavioral abnormalities


glomerulopathy with fibronectin deposits 2


Ehlers-Danlos syndrome, cardiac valvular type


congenital insensitivity to pain with severe intellectual disability


intellectual disability, autosomal recessive 18


familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome


susceptibility to localized juvenile periodontitis


intellectual disability, autosomal dominant 15


gastroenteritis, transmissible, of swine


systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease


limb transversal defect-cardiac anomaly syndrome


autosomal recessive Ehlers-Danlos syndrome, vascular type


autosomal dominant nonsyndromic hearing loss 16


proteasome-associated autoinflammatory syndrome 4


adult familial nephronophthisis-spastic quadriparesia syndrome


malignant mixed epithelial stromal tumor of the kidney


immunodeficiency 72 with autoinflammation


familial adrenal hypoplasia with absent pituitary luteinizing hormone


pruritic urticarial papules and plaques of pregnancy


brain malformation-congenital heart disease-postaxial polydactyly syndrome


acroosteolysis-keloid-like lesions-premature aging syndrome


autosomal recessive nonsyndromic hearing loss 21


disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis


autosomal recessive nonsyndromic hearing loss 32


palmoplantar keratoderma, punctate type 1A


familial hyperthyroidism due to mutations in TSH receptor


short-rib thoracic dysplasia 15 with polydactyly


autosomal dominant nonsyndromic hearing loss 50


porcine postweaning multisystemic wasting syndrome


hypotonia, infantile, with psychomotor retardation and characteristic facies 3


pyruvate carboxylase deficiency, severe neonatal type


fibular aplasia, tibial campomelia, and oligosyndactyly syndrome


Nijmegen breakage syndrome-like disorder


mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1


aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome


obesity due to melanocortin 4 receptor deficiency


adult nodular lymphocyte predominant Hodgkin lymphoma


autosomal recessive limb-girdle muscular dystrophy type 2A


Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type


TH-deficient infantile parkinsonism and motor delay


atrial defect and interatrial communication


neurodevelopmental disorder with poor language and loss of hand skills


neurodevelopmental disorder with or without variable brain abnormalities; NEDBA


spondylometaphyseal dysplasia, Golden type


agammaglobulinemia, autosomal recessive, due to BOB1 deficiency


epidermolysis bullosa simplex due to plakophilin deficiency


maternal uniparental disomy of chromosome 1


T-B+ severe combined immunodeficiency due to CD45 deficiency


isolated Dandy-Walker malformation with hydrocephalus


lissencephaly with cerebellar hypoplasia type A


short-rib thoracic dysplasia 9 with or without polydactyly


central nervous system organ benign neoplasm


mitochondrial complex 4 deficiency, nuclear type 10


combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2


sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis


developmental and epileptic encephalopathy 100


partial bilateral aplasia of the mullerian ducts


idiopathic steroid-sensitive nephrotic syndrome


combined immunodeficiency due to OX40 deficiency


catecholaminergic polymorphic ventricular tachycardia 3


autosomal dominant limb-girdle muscular dystrophy type 1H


SRD5A3-congenital disorder of glycosylation


retroperitoneal inflammatory myofibroblastic tumor


inborn disorder of tryptophan metabolism


sporadic idiopathic steroid-resistant nephrotic syndrome


intellectual disability, X-linked, with panhypopituitarism


craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome


neurodevelopmental disorder with speech impairment and dysmorphic facies


dyskeratosis congenita, autosomal recessive 5


congenital muscular dystrophy with intellectual disability


primordial dwarfism and slender bone disorder


intellectual disability, autosomal dominant 45


autosomal recessive syndromic cerebellar ataxia


idiopathic mast cell activation syndrome


developmental and epileptic encephalopathy, 17


amelogenesis imperfecta hypomaturation type 2A4


spondyloepiphyseal dysplasia with congenital joint dislocations


nebulin-related early-onset distal myopathy


intellectual disability, autosomal dominant 22


global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


syndrome caused by partial chromosomal duplication of the short arm of chromosome 9


generalized epilepsy with febrile seizures plus, type 8


congenital erosive and vesicular dermatosis


primary cutaneous CD30+ T-cell lymphoproliferative disease


catecholaminergic polymorphic ventricular tachycardia 5


autosomal recessive nonsyndromic hearing loss 76


qualitative or quantitative defects of protein SERCA1


developmental and epileptic encephalopathy, 54


progressive supranuclear palsy-corticobasal syndrome


autosomal dominant proximal renal tubular acidosis


motor neuron disease with dementia and ophthalmoplegia


congenital primary megaureter, refluxing form


autoimmune pulmonary disease due to PD-1 deficiency


qualitative or quantitative defects of dysferlin


hepatic fibrosis-renal cysts-intellectual disability syndrome


autosomal dominant nonsyndromic hearing loss 3B


combined oxidative phosphorylation deficiency 39


mitochondrial complex 1 deficiency, nuclear type 32


mitochondrial oxidative phosphorylation disorder


acute posterior multifocal placoid pigment epitheliopathy


hyperphosphatasia with intellectual disability syndrome 5


autosomal dominant nonsyndromic hearing loss 15


persistent hyperplastic primary vitreous, autosomal dominant


hemolytic anemia due to pyrimidine 5' nucleotidase deficiency


idiopathic disseminated cytomegalovirus infection


syndromic X-linked intellectual disability Abidi type


cystic partially differentiated nephroblastoma


autosomal dominant nocturnal frontal lobe epilepsy 2


progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome


mucopolysaccharidosis type 2, attenuated form


blepharophimosis - intellectual disability syndrome, Verloes type


polycystic kidney disease 3 with or without polycystic liver disease


Niemann-Pick disease type C, adult neurologic onset


free sialic acid storage disease, infantile form


subacute inflammatory demyelinating polyneuropathy


autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect


congenital brain dysgenesis due to glutamine synthetase deficiency


intellectual disability-expressive aphasia-facial dysmorphism syndrome


precancerous lesion of palpebral epidermis


combined oxidative phosphorylation deficiency 38


autosomal recessive limb-girdle muscular dystrophy type 2X


X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome


hypogonadotropic hypogonadism-retinitis pigmentosa syndrome


growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant


Diamond-Blackfan anemia 15 with mandibulofacial dysostosis


factor 5 excess with spontaneous thrombosis


recombinase activating gene 2 deficiency


developmental and epileptic encephalopathy, 41


cloverleaf skull-asphyxiating thoracic dysplasia syndrome


isolated optic neuritis without anti-MOG antibodies


severe lateral tibial bowing with short stature


congenital reticular ichthyosiform erythroderma


endometriosis of rectovaginal septum and vagina


dysostosis with predominant craniofacial involvement


spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome


developmental and epileptic encephalopathy, 76


localized lichen myxedematosus with mixed features of different subtypes


sickle cell disease and related diseases


acute myeloid leukemia, t(5;11)(q35;p15)


autosomal recessive nonsyndromic hearing loss 59


combined oxidative phosphorylation deficiency 37


scapuloperoneal spinal muscular atrophy, autosomal dominant


centripetalis recessive dystrophic epidermolysis bullosa


skin creases, congenital symmetric circumferential, 2


partial monosomy of the long arm of chromosome 10


epidermolysis bullosa simplex with nail dystrophy


congenital absence of both forearm and hand


congenital autosomal recessive small-platelet thrombocytopenia


autosomal recessive congenital ichthyosis 9


hereditary angioedema with C1Inh deficiency


encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1


Tay-Sachs disease, b variant, infantile form


intellectual disability, autosomal dominant 54


melanoma, malignant familial intraocular


renal tubular dysgenesis of genetic origin


deficiency in anterior pituitary function - variable immunodeficiency syndrome


non-spherocytic hemolytic anemia due to hexokinase deficiency


Charcot-Marie-Tooth disease axonal type 2CC


lip herpes simplex type 1 infectious disorder


demyelinating disease of central nervous system


childhood encephalopathy due to thiamine pyrophosphokinase deficiency


unspecified inborn mitochondrial disorder


autosomal recessive optic atrophy, OPA7 type


ALG8-congenital disorder of glycosylation


transgrediens et progrediens palmoplantar keratoderma


epilepsy, familial focal, with variable foci 2


Charcot-Marie-Tooth disease recessive intermediate A


colobomatous optic disc-macular atrophy-chorioretinopathy syndrome


X-linked intellectual disability due to GRIA3 anomalies


cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


X-linked neurodegenerative syndrome, Hamel type


autosomal dominant nonsyndromic hearing loss 52


neurodegeneration with brain iron accumulation 4


syndromic X-linked intellectual disability Shrimpton type


autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome


combined oxidative phosphorylation defect type 14


growth hormone insensitivity syndrome with immune dysregulation


diabetes insipidus, nephrogenic, autosomal


autosomal recessive hereditary demyelinating motor and sensory neuropathy


congenital stationary night blindness 1G


congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization


qualitative or quantitative defects of TRIM32


PMP22-RAI1 contiguous gene duplication syndrome


hypogonadotropic hypogonadism 2 with or without anosmia


myopathy, lactic acidosis, and sideroblastic anemia 2


acetazolamide-responsive hereditary episodic ataxia


central sleep apnea due to periodic breathing


prenatal-onset spinal muscular atrophy with congenital bone fractures


X-linked myopathy with excessive autophagy


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2


neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures


medial condensing osteitis of the clavicle


pyruvate carboxylase deficiency, benign type


severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome


distal 22q11.2 microduplication syndrome


Ehlers-Danlos syndrome, spondylodysplastic type, 2


KLHL9-related early-onset distal myopathy


microcephaly 26, primary, autosomal dominant


microcephaly 11, primary, autosomal recessive


acute transverse myelitis with anti-MOG antibodies


skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


c12orf65-related combined oxidative phosphorylation defect


autosomal recessive nonsyndromic hearing loss 33


SYNGAP1-related developmental and epileptic encephalopathy


glycogen storage disease due to muscle beta-enolase deficiency


lymphoadenopathic mastocytosis with eosinophilia


familial idiopathic steroid-resistant nephrotic syndrome


neurodevelopmental disorder with central and peripheral motor dysfunction


ALG11-congenital disorder of glycosylation


acute myeloid leukemia, NRAS gene mutation


moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome


humeroradial synostosis with craniofacial anomalies


generalized epilepsy with febrile seizures plus, type 6


lethal acantholytic epidermolysis bullosa


spastic paraplegia-facial-cutaneous lesions syndrome


qualitative or quantitative defects of myofibrillar proteins


46,XX disorder of sex development induced by exogenous maternal-derived androgen


syndromic X-linked intellectual disability Chudley-Schwartz type


T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency


neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities


acinar dysplasia caused by mutation in TBX4


sex chromosome disorder of sex development


partial deletion of the short arm of chromosome 2


indolent primary cutaneous T-cell lymphoma


short-rib thoracic dysplasia 13 with or without polydactyly


abdominal obesity-metabolic syndrome quantitative trait locus 2


hypertrichotic osteochondrodysplasia Cantu type


methicillin-resistant staphylococcus aureus infectious disease


inborn disorder of lysine and hydroxylysine metabolism


Klippel-Feil syndrome 1, autosomal dominant


retinal ciliopathy due to mutation in the RPGR gene


cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis


acute myeloid leukemia, t(9;11)(p21.3;q23.3)


symptomatic form of x-linked centronuclear myopathy in female carriers


isolated optic neuritis with anti-MOG antibodies


neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy


oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies


autosomal dominant secondary polycythemia


intellectual developmental disorder, autosomal recessive 69


B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)


atrial septal defect, ostium secundum type


X-linked intellectual disability, Stevenson type


mitochondrial complex III deficiency nuclear type 4


mitochondrial complex 1 deficiency, nuclear type 34


congenitally uncorrected transposition of the great arteries with coarctation


developmental and epileptic encephalopathy, 61


qualitative or quantitative defects of alpha-actin


familial infantile bilateral striatal necrosis


intellectual disability-severe speech delay-mild dysmorphism syndrome


autosomal dominant nocturnal frontal lobe epilepsy 5


intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome


streptococcus pneumoniae-associated hemolytic uremic syndrome


X-linked hydrocephalus with stenosis of the aqueduct of Sylvius


HTRA1-related autosomal dominant cerebral small vessel disease


constitutional megaloblastic anemia with severe neurologic disease


partial deletion of the long arm of chromosome 12


hypotrichosis-intellectual disability, Lopes type


undifferentiated high grade pleomorphic sarcoma of bone


brachydactyly, type E, with atrial septal defect, type 2


seizures, benign familial neonatal, autosomal recessive


inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide


peroxisome biogenesis disorder due to PEX6 defect


progressive dementia with neuroserpin inclusion bodies


radioulnar synostosis with amegakaryocytic thrombocytopenia 2


diffuse palmoplantar keratoderma with painful fissures


autosomal recessive spastic paraplegia type 67


sickle cell-hemoglobin c disease syndrome


atypical progressive supranuclear palsy syndrome


anatomical narrow angle borderline glaucoma


metaphyseal chondrodysplasia-retinitis pigmentosa syndrome


autosomal dominant palmoplantar keratoderma and congenital alopecia


dysostosis with brachydactyly with extraskeletal manifestations


anomaly of puberty or/and menstrual cycle of genetic origin


developmental and epileptic encephalopathy, 46


metabolic disease involving other neurotransmitter deficiency


combined oxidative phosphorylation deficiency 40


early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome


succinyl-CoA:3-ketoacid CoA transferase deficiency


hypomagnesemia, seizures, and intellectual disability


congenital primary megaureter, nonrefluxing and unobstructed form


spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome


intellectual disability, autosomal dominant 56


benign neoplasm of peripheral nervous system


rhizomelic dysplasia, Patterson-Lowry type


familial primary hypomagnesemia with normocalcuria


isolated anhidrosis with normal sweat glands


ichthyosis, congenital, autosomal recessive 12


diffuse palmoplantar keratoderma - acrocyanosis syndrome


intellectual disability, autosomal recessive 6


autosomal recessive spinocerebellar ataxia 2


autosomal recessive nonsyndromic hearing loss 66


silver-Russell syndrome due to 7p11.2p13 microduplication


anomaly of the secretory and excretory apparatus of the lacrimal system


short stature due to partial GHR deficiency


cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome


familial chronic myelocytic leukemia-like syndrome


hereditary thrombocytopenia with normal platelets


hypogonadotropic hypogonadism 7 with or without anosmia


Niemann-Pick disease type C, juvenile neurologic onset


partial duplication of the short arm of chromosome 11


mesenteric lymphadenitis due to Yersinia infection


short stature-pituitary and cerebellar defects-small sella turcica syndrome


disorder of iron metabolism and transport


pigmented nodular adrenocortical disease, primary, 2


X-linked intellectual disability with hypopituitarism


intellectual disability, autosomal dominant 27


alopecia universalis onychodystrophy vitiligo


ciliary dyskinesia, primary, 47, and lissencephaly


uveal coloboma-cleft lip and palate-intellectual disability


cortical dysplasia, complex, with other brain malformations 9


refractory precursor T-lymphoblastic lymphoma/leukemia


46,XX testicular disorder of sex development


MAN1B1-congenital disorder of glycosylation


developmental and epileptic encephalopathy 97


primary immunodeficiency due to calcium channel deficiency


anhidrosis, familial generalized, with abnormal or absent sweat glands


autosomal dominant nonsyndromic hearing loss 11


partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome


partial duplication of the long arm of chromosome 2


mitochondrial complex 1 deficiency, nuclear type 6


epidermolysis bullosa simplex 1C, localized


ALG9-associated autosomal dominant polycystic kidney disease


thyroid hormone resistance, generalized, autosomal dominant


rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies


absent radius-anogenital anomalies syndrome


pseudoleprechaunism syndrome, Patterson type


muscular dystrophy-white matter spongiosis syndrome


hypothyroidism, congenital, nongoitrous, 9


Kleefstra syndrome due to 9q34 microdeletion


complex cortical dysplasia with other brain malformations 4


autosomal dominant nonsyndromic hearing loss 48


mucopolysaccharidosis type 2, severe form


generalized dominant dystrophic epidermolysis bullosa


ALG2-congenital disorder of glycosylation


spondyloepimetaphyseal dysplasia, Irapa type


intellectual developmental disorder, autosomal recessive 70


intellectual developmental disorder, autosomal dominant 64


combined deficiency of factor V and factor VIII


intellectual disability, autosomal dominant 42


generalized epilepsy with febrile seizures plus, type 2


developmental and epileptic encephalopathy 89


aniridia-renal agenesis-psychomotor retardation syndrome


idiopathic macular telangiectasia type 3


juvenile amyotrophic lateral sclerosis with dementia


peroxisome biogenesis disorder 7A (Zellweger)


susceptibility to visceral leishmaniasis, 2


acute myeloid leukemia, t(9;22)(q34.1;q11.2)


acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive


adult-onset foveomacular vitelliform dystrophy


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1


benign adult familial myoclonic epilepsy


Ehlers-Danlos syndrome, autosomal dominant, type unspecified


systemic-onset juvenile idiopathic arthritis


iatrogenic or traumatic pituitary deficiency


developmental and epileptic encephalopathy 94


combined oxidative phosphorylation defect type 27


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion


X-linked intellectual disability, Stoll type


retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome


intellectual disability, autosomal recessive 2


short-rib thoracic dysplasia 14 with polydactyly


ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


LIPE-related familial partial lipodystrophy


congenital hereditary facial paralysis-variable hearing loss syndrome


rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


acute myeloid leukemia, t(1;11)(q21;q23)


benign familial neonatal-infantile seizures 1


MELAS syndrome caused by mutation in MTTC


neuropathy, hereditary motor and sensory, type 6A


hypotonia with lactic acidemia and hyperammonemia


mitochondrial complex I deficiency, nuclear type


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency


autosomal recessive spinocerebellar ataxia 17


partial monosomy of the short arm of chromosome 20


intellectual disability, autosomal dominant 30


combined oxidative phosphorylation deficiency 29


autosomal recessive proximal renal tubular acidosis


osteosclerosis-ichthyosis-premature ovarian failure syndrome


GRID2-related autosomal dominant spinocerebellar ataxia


mitochondrial complex 1 deficiency, nuclear type 19


neurodegeneration with brain iron accumulation 6


hereditary acrokeratotic poikiloderma, Weary type


cardiac anomalies - developmental delay - facial dysmorphism syndrome


neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


camptodactyly syndrome, Guadalajara type 3


type I complement component 8 deficiency


ciliary dyskinesia with transposition of ciliary microtubules


spinocerebellar ataxia, autosomal recessive 24


autosomal dominant nonsyndromic hearing loss 21


disorder of defective peroxisome oxidative status


cholesterol-ester transfer protein deficiency


intellectual disability, autosomal dominant 14


chromosome 5Q14.3 deletion syndrome, distal


muscular dystrophy, congenital, with rapid progression


atypical hemolytic-uremic syndrome with C3 anomaly


46,XX disorder of sex development induced by endogenous maternal-derived androgen


skin disease caused by bacterial infection, non-human animal


Wiskott-Aldrich syndrome, autosomal dominant form


hyper-IgE recurrent infection syndrome 5, autosomal recessive


mitochondrial complex III deficiency nuclear type 3


epiphyseal dysplasia-hearing loss-dysmorphism syndrome


well differentiated papillary mesothelioma


acute myeloid leukemia, KIT exon 17 mutation


spastic paraplegia-glaucoma-intellectual disability syndrome


familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome


EBV-positive T-cell lymphoproliferative disorder of childhood


benign angiitis of the central nervous system


intellectual disability-myopathy-short stature-endocrine defect syndrome


anemia, congenital dyserythropoietic, type 1a


hereditary cryohydrocytosis with reduced stomatin


epidermolysis bullosa simplex superficialis


developmental and epileptic encephalopathy, 44


T-cell immunodeficiency, congenital alopecia, and nail dystrophy


ectodermal dysplasia-cutaneous syndactyly syndrome


distal hereditary motor neuropathy type 2


young adult-onset distal hereditary motor neuropathy


disorder of vitamin and non-protein cofactor absorption and transport


partial deletion of the short arm of chromosome 11


combined oxidative phosphorylation defect type 20


hereditary sclerosing poikiloderma, Weary type


immunodeficiency 74, COVID-19-related, X-linked


drug- or toxin-induced pulmonary arterial hypertension


microcornea-glaucoma-absent frontal sinuses syndrome


Ehlers-Danlos syndrome, Beasley-Cohen type


partial deletion of the long arm of chromosome 19


craniodiaphyseal dysplasia, autosomal dominant


autosomal recessive limb-girdle muscular dystrophy type 2Y


partial deletion of the long arm of chromosome 13


Okihiro syndrome due to 20q13 microdeletion


cystic leukoencephalopathy without megalencephaly


spinocerebellar ataxia, autosomal recessive 30


partial trisomy of the long arm of chromosome 16


diabetes insipidus, nephrogenic, X-linked


parkinsonism with dementia of Guadeloupe


syndrome caused by partial chromosomal deletion


nodular sclerosis classical Hodgkin lymphoma


autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius


atypical hemolytic uremic syndrome with complement gene abnormality


autosomal recessive spinocerebellar ataxia 7


hematopoietic and lymphoid cell neoplasm


maternal uniparental disomy of chromosome 4


acute necrotizing encephalopathy of childhood


Leber congenital amaurosis with early-onset deafness


myeloid neoplasm associated with PDGFRB rearrangement


skeletal dysplasia-epilepsy-short stature syndrome


immunodeficiency-centromeric instability-facial anomalies syndrome 4


mandibuloacral dysplasia with type B lipodystrophy


peroxisome biogenesis disorder 1A (Zellweger)


muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8


familial hyperreninemic hypoaldosteronism type 1


neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities


congenital partial agenesis of pericardium


autosomal recessive nonsyndromic hearing loss 55


intellectual disability, autosomal dominant 58


autosomal recessive congenital ichthyosis 2


autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures


intellectual disability, autosomal recessive 33


ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome


oculoauriculovertebral spectrum with radial defects


optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome


combined oxidative phosphorylation deficiency 48


chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase


tall stature-scoliosis-macrodactyly of the great toes syndrome


myopathy, reducing body, X-linked, childhood-onset


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive


xeroderma pigmentosum-Cockayne syndrome complex


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type


sulfite oxidase deficiency due to molybdenum cofactor deficiency type B


syndromic X-linked intellectual disability 94


paternal uniparental disomy of chromosome 14


infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome


hypertrichosis-acromegaloid facial appearance syndrome


ciliary dyskinesia, primary, 36, X-linked


hereditary motor and sensory neuropathy type 6


isolated focal cortical dysplasia type IIb


autosomal dominant nocturnal frontal lobe epilepsy 4


SCN4A-related myopathy, autosomal recessive


X-linked complex neurodevelopmental disorder


circadian rhythm sleep disorder, shift work type


Huntington disease and related disorders


immunodeficiency-centromeric instability-facial anomalies syndrome


dopa-responsive dystonia due to sepiapterin reductase deficiency


mitochondrial myopathy with a defect in mitochondrial-protein transport


intellectual disability-sparse hair-brachydactyly syndrome


immunodeficiency without anhidrotic ectodermal dysplasia


mitochondrial complex II deficiency, nuclear type


hypogonadotropic hypogonadism 21 with or without anosmia


cold-induced sweating syndrome - hyperthermia spectrum


hypophosphatemic rickets, autosomal recessive, 2


herpes simplex type 1 infectious disease


short stature-webbed neck-heart disease syndrome


sporadic infantile bilateral striatal necrosis


intellectual disability, autosomal dominant 51


X-linked intellectual disability-hypotonia-movement disorder syndrome


avascular necrosis of femoral head, primary, 2


alopecia-intellectual disability syndrome 3


partial deletion of the short arm of chromosome 1


lethal congenital contracture syndrome 1


polyneuropathy-intellectual disability-acromicria-premature menopause syndrome


acute myeloid leukemia, KIT exon 8 mutation


aortic arch anomaly-facial dysmorphism-intellectual disability syndrome


spastic paraplegia 81, autosomal recessive


ichthyosiform erythroderma, corneal involvement, and hearing loss


proteasome-associated autoinflammatory syndrome 2


SIN3A-related intellectual disability syndrome


unbalanced Robertsonian translocation Down syndrome


microcephaly sparse hair intellectual disability seizures


microcephaly 16, primary, autosomal recessive


Carney complex - trismus - pseudocamptodactyly syndrome


infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome


developmental and epileptic encephalopathy, 25


developmental and epileptic encephalopathy, 33


spinocerebellar degeneration with slow eye movements


alopecia congenita keratosis palmoplantaris


retinal ciliopathy due to mutation in the RPGRIP gene


kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome


congenital absence of both lower leg and foot, unilateral


epileptic encephalopathy, infantile or early childhood


Charcot-Marie-Tooth disease, axonal, type 2FF


immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia


genital herpes simplex type 1 infectious disorder


congenital muscular dystrophy due to integrin alpha-7 deficiency


polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2


peroxisome biogenesis disorder due to PEX19 defect


neuronopathy, distal hereditary motor, type 9


pure or complex hereditary spastic paraplegia


Charcot-Marie-Tooth disease axonal type 2C


arterial calcification, generalized, of infancy, 1


autosomal recessive nonsyndromic hearing loss 77


bleeding diathesis due to a collagen receptor defect


benign female reproductive system neoplasm


autosomal recessive limb-girdle muscular dystrophy type 2P


nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome


autosomal recessive nonsyndromic hearing loss 74


neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies


Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome


neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy


autosomal recessive spastic paraplegia type 78


severe dermatitis-multiple allergies-metabolic wasting syndrome


autoinflammatory syndrome, familial, Behcet-like


autosomal dominant nonsyndromic hearing loss 27


peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain


optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant


uterine corpus epithelioid leiomyosarcoma


neuropathy, hereditary sensory, atypical


hereditary persistence of fetal hemoglobin-sickle cell disease syndrome


myopathy, congenital, with fiber-type disproportion, X-linked


progeria-short stature-pigmented nevi syndrome


46,XX disorder of sex development-anorectal anomalies syndrome


qualitative or quantitative defects of tropomyosin


spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome


neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements


autosomal dominant nonsyndromic hearing loss 12


autosomal recessive nonsyndromic hearing loss 8


symbrachydactyly of hand and foot, bilateral


congenital disorder of glycosylation-related bone disorder


frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome


Ehlers-Danlos syndrome, spondylodysplastic type, 1


nystagmus 7, congenital, autosomal dominant


classic pantothenate kinase-associated neurodegeneration


immunodeficiency 14b, autosomal recessive


spondylometaphyseal dysplasia, 'corner fracture' type


intellectual disability, Buenos-Aires type


Bordetella parapertussis infectious disease


leukoencephalopathy with vanishing white matter


microcephaly-complex motor and sensory axonal neuropathy syndrome


autosomal dominant nonsyndromic hearing loss 1


central polydactyly of fingers, unilateral


megalencephalic leukoencephalopathy with subcortical cysts 2A


disorder of other vitamins and cofactors metabolism and transport


autosomal recessive nonsyndromic hearing loss 25


oculodentodigital dysplasia, autosomal recessive


aniridia - intellectual disability syndrome


adult-onset proximal spinal muscular atrophy, autosomal dominant


autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome


hereditary sensory and autonomic neuropathy type 7


primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection


epidermolysis bullosa, junctional 2B, severe


dextro-looped transposition of the great arteries


autoimmune disease, multisystem, infantile-onset


leukemia, acute lymphoblastic, susceptibility to, 3


maternal uniparental disomy of chromosome 6


acute myeloid leukemia, t(3;12)(q23;p12.3)


intellectual disability, X-linked 99, syndromic, female-restricted


cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome


pigmented paravenous retinochoroidal atrophy


acute myeloblastic leukemia with maturation


myopathy, distal, 7, adult-onset, X-linked


silver-Russell syndrome due to an imprinting defect of 11p15


bulbospinal muscular atrophy of childhood


mitochondrial complex 1 deficiency, nuclear type 27


mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency


developmental and epileptic encephalopathy, 63


chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids


immunodeficiency 101 (varicella zoster virus-specific)


agammaglobulinemia 3, autosomal recessive


Ehlers-Danlos syndrome, spondylocheirodysplastic type


ichthyosis-oral and digital anomalies syndrome


high-grade neuroendocrine carcinoma of the cervix uteri


congenital lipoid adrenal hyperplasia due to STAR deficency


hypoplastic tibiae-postaxial polydactyly syndrome


erythrokeratodermia variabilis et progressiva 4


tumoral calcinosis, hyperphosphatemic, familial, 2


ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis


congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome


melanoma, cutaneous malignant, susceptibility to, 10


deafness, autosomal recessive 118, with cochlear aplasia


partial deletion of the long arm of chromosome 5


atypical chronic myeloid leukemia, BCR-ABL1 negative


developmental and epileptic encephalopathy, 36


idiopathic peripheral autonomic neuropathy


multisystem autoimmune disease due to IKAROS gain of function


developmental and epileptic encephalopathy 98


neuronopathy, distal hereditary motor, type 5


autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome


myopathy due to calsequestrin and SERCA1 protein overload


ichthyosis, hystrix-like, with hearing loss


therapy related acute myeloid leukemia and myelodysplastic syndrome


autosomal recessive congenital cerebellar ataxia


Okihiro syndrome due to a point mutation


developmental and epileptic encephalopathy, 59


autosomal dominant nonsyndromic hearing loss 4A


spastic paraplegia-epilepsy-intellectual disability syndrome


congenital muscular dystrophy merosin-positive


Silverman-Handmaker type dyssegmental dysplasia


T-cell large granular lymphocyte leukemia


generalized epilepsy with febrile seizures plus, type 4


LAMB2-related infantile-onset nephrotic syndrome


silver-Russell syndrome due to maternal uniparental disomy of chromosome 11


ALG9-congenital disorder of glycosylation


neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies


rheumatoid factor-negative juvenile idiopathic arthritis


ectodermal dysplasia-sensorineural deafness syndrome


muscular dystrophy, limb-girdle, autosomal recessive 23


multiple epiphyseal dysplasia and pseudoachondroplasia


Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia


female infertility due to zona pellucida defect


familial focal epilepsy with variable foci


hypogonadotropic hypogonadism 8 with or without anosmia


Kleefstra syndrome due to a point mutation


LMNA-related cardiocutaneous progeria syndrome


infant epilepsy with migrant focal crisis


neonatal epileptic encephalopathy due to glutaminase deficiency


bladder inflammatory myofibroblastic tumor


familial clubfoot due to 17q23.1q23.2 microduplication


pauci-immune glomerulonephritis without ANCA


partial trisomy/tetrasomy of the short arm of chromosome 12


intellectual disability-facial dysmorphism-hand anomalies syndrome


chronic recurrent multifocal osteomyelitis


megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)


mild phosphoribosylpyrophosphate synthetase superactivity


palmoplantar keratoderma, nonepidermolytic, focal or diffuse


low-grade neuroendocrine tumor of the corpus uteri


glaucoma secondary to spherophakia/ectopia lentis and megalocornea


metaphyseal undermodeling, spondylar dysplasia, and overgrowth


regional variant of Guillain-Barre syndrome


inflammatory myopathy with abundant macrophages


intellectual disability, autosomal recessive 57


hypogonadotropic hypogonadism 19 with or without anosmia


catecholaminergic polymorphic ventricular tachycardia 1


autosomal recessive centronuclear myopathy


intellectual disability, autosomal dominant 57


paternal uniparental disomy of chromosome 5


Huntington disease-like syndrome due to C9ORF72 expansions


otopalatodigital syndrome spectrum disorder


sickle cell-beta-thalassemia disease syndrome


unspecified juvenile idiopathic arthritis


recurrent infections associated with rare immunoglobulin isotypes deficiency


steroid dehydrogenase deficiency-dental anomalies syndrome


microcephalic primordial dwarfism, Toriello type


progressive demyelinating neuropathy with bilateral striatal necrosis


primary central nervous system vasculitis


autosomal dominant nonsyndromic hearing loss 7


intellectual disability, X-linked, syndromic 33


craniometaphyseal dysplasia, autosomal recessive


familial juvenile hyperuricemic nephropathy


punctate acrokeratoderma freckle-like pigmentation


MELAS syndrome caused by mutation in MTND5


autosomal recessive agammaglobulinemia 1


FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome


mitochondrial complex 1 deficiency, nuclear type 23


split hand-foot malformation 1 with sensorineural hearing loss


ceroid lipofuscinosis, neuronal, 6B (Kufs type)


infective dermatitis associated with HTLV-1


lissencephaly type 3-metacarpal bone dysplasia syndrome


inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism


malignant vaginal mixed epithelial and mesenchymal neoplasm


delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome


alopecia-intellectual disability syndrome 4


microcephaly 8, primary, autosomal recessive


partial trisomy/tetrasomy of the short arm of chromosome 18


opportunistic bacterial infectious disease


isolated Dandy-Walker malformation without hydrocephalus


pigmented nodular adrenocortical disease, primary, 3


thrombocytopenia, X-linked, with or without dyserythropoietic anemia


early-onset autosomal dominant Alzheimer disease


testicular anomalies with or without congenital heart disease


familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis


circadian rhythm sleep disorder, delayed sleep phase type


anemia, hypochromic microcytic with iron overload


thin ribs-tubular bones-dysmorphism syndrome


spastic paraplegia-Paget disease of bone syndrome


hyperphenylalaninemia due to DNAJC12 deficiency


non-functioning pituitary gland neoplasm


hereditary sensory and autonomic neuropathy type 2


autosomal dominant non-syndromic intellectual disability


selective peripheral resistance to thyroid hormone


intellectual disability, autosomal dominant 9


non-acquired combined pituitary hormone deficiency


proximal myopathy with focal depletion of mitochondria


ectodermal dysplasia-syndactyly syndrome 1


congenital absence of thigh and lower leg with foot present, bilateral


T-cell immunodeficiency with epidermodysplasia verruciformis


autosomal recessive nonsyndromic hearing loss 86


developmental and epileptic encephalopathy, 56


peroxisome biogenesis disorder 12A (Zellweger)


infantile Bartter syndrome with sensorineural deafness


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome


multiple benign circumferential skin creases on limbs 1


disorder of carnitine cycle and carnitine transport


partial deletion of the long arm of chromosome 20


familial idiopathic steroid-resistant nephrotic syndrome with minimal changes


congenital muscular dystrophy with intellectual disability and severe epilepsy


inflammatory linear verrucous epidermal nevus


intellectual disability-hypotonia-skin hyperpigmentation syndrome


X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome


spinocerebellar ataxia, autosomal recessive 29


congenital hypoplasia of the mitral valve annulus


myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2


Leydig cell hypoplasia due to partial LH resistance


generalized basaloid follicular hamartoma syndrome


rippling muscle disease with myasthenia gravis


alpha-N-acetylgalactosaminidase deficiency type 3


nephrogenic diabetes insipidus-intracranial calcification syndrome


shoulder and girdle defects-familial intellectual disability syndrome


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2


peroxisome biogenesis disorder 11A (Zellweger)


cortical blindness-intellectual disability-polydactyly syndrome


metaphyseal chondrodysplasia, Kaitila type


intellectual disability, autosomal dominant 13


IFAP syndrome with or without BRESHECK syndrome


antenatal multiminicore disease with arthrogryposis multiplex congenita


generalized epilepsy with febrile seizures plus


familial isolated hypoparathyroidism due to impaired PTH secretion


generalized resistance to thyroid hormone


acute myeloid leukemia, PTPN11 gene mutation


autosomal dominant nonsyndromic hearing loss 5


lymphoma, Hodgkin, X-linked pseudoautosomal


hereditary sensory and autonomic neuropathy with spastic paraplegia


secondary hyperparathyroidism of renal origin


congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome


mitochondrial complex 1 deficiency, nuclear type 15


neurodevelopmental disorder with involuntary movements


spondyloepimetaphyseal dysplasia, Maroteaux type


serous or mucinous cystadenoma of childhood


chronic mucocutaneous candidiasis due to monocyte chemotactic disorder


combined immunodeficiency due to ORAI1 deficiency


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1


porcine reproductive and respiratory syndrome


neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia


hemolytic disease of the newborn with Kell alloimmunization


adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy


microcephaly, short stature, and impaired glucose metabolism 2


immune-mediated acquired neuromuscular junction disease


chronic rapidly progressive glomerulonephritis


acute myeloid leukemia with CEBPA somatic mutations


megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


congenital absence/hypoplasia of fingers excluding thumb


congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome


Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome


X-linked intellectual disability-psychosis-macroorchidism syndrome


non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy


46,XX disorder of sex development induced by fetal androgens excess


syndromic X-linked intellectual disability Claes-Jensen type


hypogonadotropic hypogonadism 20 with or without anosmia


factor 5 and Factor VIII, combined deficiency of, 2


erythrocyte galactose epimerase deficiency


alpha-N-acetylgalactosaminidase deficiency type 1


corpus callosum agenesis of blepharophimosis robin type


hypogonadotropic hypogonadism 4 with or without anosmia


Charcot-Marie-Tooth disease dominant intermediate C


neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia


hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome


progressive non-infectious anterior vertebral fusion


patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome


Klippel-Feil syndrome 3, autosomal dominant


acute subendocardial myocardial infarction


malignant germ cell tumor of corpus uteri


severe early-onset axonal neuropathy due to MFN2 deficiency


normophosphatemic familial tumoral calcinosis


posterior polymorphous corneal dystrophy


acute myeloid leukemia, t(16;21)(q24;q22)


carnitine palmitoyl transferase II deficiency, severe infantile form


acute disseminated encephalomyelitis with anti-MOG antibodies


short-rib thoracic dysplasia 18 with polydactyly


median cleft of the upper lip and maxilla


myoglobinuria, acute recurrent, autosomal recessive


coronal synostosis, syndactyly and jejunal atresia


combined oxidative phosphorylation deficiency 36


chromosome 11p13 deletion syndrome, distal


autosomal recessive limb-girdle muscular dystrophy type 2J


craniometaphyseal dysplasia, autosomal dominant


X-linked intellectual disability, Pai type


autosomal dominant slowed nerve conduction velocity


intellectual disability syndrome due to a DYRK1A point mutation


spondyloepiphyseal dysplasia, Stanescu type


facioscapulohumeral muscular dystrophy 4, digenic


heterotaxy, visceral, 9, autosomal, with male infertility


anomaly of the tricuspid subvalvular apparatus


vitamin D hydroxylation-deficient rickets, type 1B


neurodevelopmental disorder with microcephaly, ataxia, and seizures


autoimmune primary adrenal insufficiency


inherited glutathione metabolism disease


punctate palmoplantar keratoderma type 2


ectodermal dysplasia arthrogryposis diabetes mellitus


short rib-polydactyly syndrome, Majewski type


cerebellar atrophy, visual impairment, and psychomotor retardation;


autosomal recessive nonsyndromic hearing loss 67


diabetes mellitus type 2 associated cataract


developmental and epileptic encephalopathy 99


congenital thrombotic thrombocytopenic purpura


combined immunodeficiency due to CD3gamma deficiency


hyperparathyroidism, primary, caused by water clear cell hyperplasia


aromatic L-amino acid decarboxylase deficiency


combined oxidative phosphorylation deficiency 43


inborn disorder of biogenic amine metabolism and transport


hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


Charcot-Marie-Tooth disease axonal type 2V


febrile infection-related epilepsy syndrome


nephrolithiasis, X-linked recessive, with renal failure


pigmented nodular adrenocortical disease, primary, 1


inborn disorder of cobalamin metabolism and transport


acute myeloid leukemia with NPM1 somatic mutations


atypical hemolytic-uremic syndrome with H factor anomaly


pure or complex autosomal dominant spastic paraplegia


indolent primary cutaneous B-cell lymphoma


autosomal dominant auditory neuropathy 1


congenital fiber-type disproportion myopathy


tetrahydrobiopterin metabolic process disease


marfanoid habitus-autosomal recessive intellectual disability syndrome


limbic encephalitis associated with antibodies to cell membrane antigens


preterm premature rupture of the membranes


developmental and epileptic encephalopathy, 49


lissencephaly with cerebellar hypoplasia type C


alopecia - intellectual disability syndrome


intellectual disability, autosomal dominant 11


autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome


hypogonadotropic hypogonadism 26 with or without anosmia


severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia


intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency


partial deletion of the long arm of chromosome 14


Ehlers-Danlos syndrome, spondylodysplastic type


non-classic congenital lipoid adrenal hyperplasia due to STAR deficency


autosomal recessive nonsyndromic hearing loss 14


microcephaly 7, primary, autosomal recessive


short-limb skeletal dysplasia with severe combined immunodeficiency


B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)


fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3


neurodevelopmental disorder with or without early-onset generalized epilepsy


Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency


isolated hereditary congenital facial paralysis


intellectual developmental disorder, autosomal recessive 72


congenital muscular dystrophy due to LMNA mutation


striatal degeneration, autosomal dominant


polycystic ovaries-urethral sphincter dysfunction syndrome


neuromyelitis optica spectrum disorder with anti-MOG antibodies


multiple paragangliomas associated with polycythemia


spondyloepiphyseal dysplasia, Reardon type


familial congenital palsy of trochlear nerve


pituitary hormone deficiency, combined, 1


microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type


neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter


acute tricyclic antidepressant poisoning


peroxisome biogenesis disorder due to PEX26 defect


adult-onset distal myopathy due to VCP mutation


congenital disorder of glycosylation type I


intellectual disability, X-linked syndromic, Turner type


progressive scapulohumeroperoneal distal myopathy


radioulnar synostosis-developmental delay-hypotonia syndrome


developmental and epileptic encephalopathy, 71


succinic semialdehyde dehydrogenase deficiency


epilepsy, early-onset, vitamin B6-dependent


ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive


Angelman syndrome due to maternal 15q11q13 deletion


ciliary discoordination due to random ciliary orientation


mitochondrial complex 2 deficiency, nuclear type 2


hereditary sensory and autonomic neuropathy type 5


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia


mitochondrial complex 1 deficiency, nuclear type 37


ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type


combined oxidative phosphorylation defect type 13


acquired angioedema with C1Inh deficiency


epilepsy, familial focal, with variable foci 3


intellectual disability, autosomal recessive 47


dyskeratosis congenita, autosomal dominant 2


immunodeficiency 94 with autoinflammation and dysmorphic facies


paroxysmal familial ventricular fibrillation


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema


disorder of lysosomal-related organelles


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations


congenital disorder of glycosylation, type ICC


Charcot-Marie-Tooth disease, dominant intermediate G


autosomal dominant nocturnal frontal lobe epilepsy 1


blepharophimosis-ptosis-epicanthus inversus syndrome plus


severe combined immunodeficiency due to CARD11 deficiency


ichthyosis, X-linked, without steroid sulfatase deficiency


benign infantile focal epilepsy with midline spikes and wave during sleep


peroxisome biogenesis disorder due to PEX14 defect


maternal uniparental disomy of chromosome 14


autosomal recessive limb-girdle muscular dystrophy type 2R1


congenital absence of both forearm and hand, unilateral


autosomal recessive cerebellar ataxia-saccadic intrusion syndrome


X-linked lissencephaly with abnormal genitalia


Charcot-Marie-Tooth disease axonal type 2O


Leber hereditary optic neuropathy, autosomal recessive


peroxisome biogenesis disorder due to PEX5 defect


retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene


developmental and epileptic encephalopathy, 50


hereditary progressive mucinous histiocytosis


spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis


taurodontia-absent teeth-sparse hair syndrome


partial trisomy of the long arm of chromosome 5


X-linked intellectual disability-ataxia-apraxia syndrome


juvenile idiopathic inflammatory myopathy


hemophagocytic lymphohistiocytosis due to RhoG deficiency


mitochondrial complex 1 deficiency, nuclear type 31


mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy


developmental and epileptic encephalopathy, 34


leukodystrophy, hypomyelinating, 19, transient infantile


familial temporal lobe epilepsy syndrome


mitochondrial DNA depletion syndrome, encephalomyopathic form


microcephaly 17, primary, autosomal recessive


autosomal dominant hypophosphatemic rickets


rhizomelic chondrodysplasia punctata type 1


autosomal recessive nonsyndromic hearing loss 84B


intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome


developmental and epileptic encephalopathy, 68


porokeratotic eccrine ostial and dermal duct nevus


corpus callosum dysgenesis X-linked recessive


mitochondrial DNA depletion syndrome 20 (mngie type)


mitochondrial complex 1 deficiency, mitochondrial type 1


myoclonic epilepsy in non-progressive encephalopathies


microphthalmia with brain and digit anomalies


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3


hypothyroidism, congenital, nongoitrous, 8


inborn disorder of ornithine, proline and hydroxyproline metabolism


spondyloepiphyseal dysplasia, Kimberley type


univentricular heart with single atrio-ventricular valve


cerebellar ataxia and hypergonadotropic hypogonadism


developmental and epileptic encephalopathy, 26


autoinflammatory syndrome, familial, X-linked, Behcet-like 2


central nervous system cystic malformation


autosomal recessive spastic paraplegia type 66


pituitary hormone deficiency, combined, 2


pyruvate dehydrogenase phosphatase deficiency


chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation


congenital cerebellar ataxia due to RNU12 mutation


rhizomelic chondrodysplasia punctata type 5


mesomelic dwarfism-cleft palate-camptodactyly syndrome


developmental and epileptic encephalopathy, 74


hypertelorism, microtia, facial clefting syndrome


qualitative or quantitative defects of calpain


X-linked intellectual disability, Cabezas type


posterior polymorphous corneal dystrophy 3


Ehlers-Danlos syndrome, fibronectinemic type


lung agenesis-heart defect-thumb anomalies syndrome


epidermolysis bullosa simplex 2A, generalized severe


TMEM165-congenital disorder of glycosylation


striatal degeneration, autosomal dominant 2


thanatophoric dysplasia, Glasgow variant


autosomal recessive nonsyndromic hearing loss 17


pyruvate dehydrogenase E3-binding protein deficiency


myopathy, myosin storage, autosomal dominant


idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance


autosomal recessive lower motor neuron disease with childhood onset


Charcot-Marie-Tooth disease, Guadalajara neuronal type


partial duplication of the short arm of chromosome 7


neurodegeneration with brain iron accumulation 2B


intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency


limbic encephalitis with NMDA receptor antibodies


mitochondrial non-syndromic sensorineural hearing loss


alacrima, congenital, autosomal recessive


autosomal dominant nonsyndromic hearing loss 25


childhood-onset Steinert myotonic dystrophy


hyperphosphatasia with intellectual disability syndrome 4


neurodevelopmental disorder with hypotonia, microcephaly, and seizures


qualitative or quantitative defects of plectin


preaxial polydactyly-colobomata-intellectual disability syndrome


mitochondrial complex 4 deficiency, nuclear type 8


atypical dentin dysplasia due to SMOC2 deficiency


autosomal recessive nonsyndromic hearing loss 101


vitamin K-dependent clotting factors, combined deficiency of, type 2


hypothalamic adipsic hypernatraemia syndrome


colobomatous microphthalmia-rhizomelic dysplasia syndrome


B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)


chromosome 1, uniparental disomy 1q12 q21


Charcot-Marie-Tooth disease recessive intermediate D


non-amyloid monoclonal immunoglobulin deposition disease


neuronopathy, distal hereditary motor, type 5B


disorder of galactose and fructose metabolism


combined oxidative phosphorylation defect type 15


developmental and epileptic encephalopathy, 82


transposition of the great arteries and conotruncal cardiac anomaly


erythrokeratodermia variabilis et progressiva 7


neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures


mitochondrial complex 4 deficiency, nuclear type 3


mitochondrial complex 1 deficiency, nuclear type 10


primitive neuroectodermal tumor of the cervix uteri


congenital pseudoarthrosis of the radius


mitochondrial complex 1 deficiency, nuclear type 24


intellectual disability, autosomal recessive 43


maternal uniparental disomy of chromosome 16


metaphyseal chondrodysplasia, Spahr type


sickle cell disease associated with an other hemoglobin anomaly


trichomegaly-retina pigmentary degeneration-dwarfism syndrome


autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain


imperforate oropharynx-costo vetebral anomalies syndrome


developmental and epileptic encephalopathy, 80


myopathy, myofibrillar, 9, with early respiratory failure


blepharophimosis - intellectual disability syndrome, MKB type


malignant peritoneal solitary fibrous tumor


severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome


short-rib thoracic dysplasia 8 with or without polydactyly


ankyloblepharon-ectodermal defects-cleft lip/palate syndrome


neurodevelopmental disorder with hypotonia, neuropathy, and deafness


global developmental delay-osteopenia-ectodermal defect syndrome


combined oxidative phosphorylation defect type 17


helicoid peripapillary chorioretinal degeneration


microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome


hypotonia, infantile, with psychomotor retardation and characteristic facies


combined oxidative phosphorylation deficiency 45


phosphoenolpyruvate carboxykinase deficiency, mitochondrial


atypical Fanconi syndrome-neonatal hyperinsulinism syndrome


autosomal recessive spondylocostal dysostosis


Cockayne spectrum with or without cerebrooculofacioskeletal syndrome


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5


nephrogenic syndrome of inappropriate antidiuresis


hypercarotenemia and vitamin A deficiency, autosomal recessive


Bietti crystalline corneoretinal dystrophy


coloboma of macula-brachydactyly type B syndrome


isolated punctate palmoplantar keratoderma


epidermolysis bullosa simplex 2F, with mottled pigmentation


Tay-Sachs disease, b variant, juvenile form


microcephaly-cardiac defect-lung malsegmentation syndrome


Charcot-Marie-Tooth disease, demyelinating, IIA 1I


autosomal recessive spastic paraplegia type 76


fatty acid hydroxylase-associated neurodegeneration


PPARG-related familial partial lipodystrophy


isolated congenital hypogonadotropic hypogonadism


hereditary disorder of connective tissue


congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome


developmental and epileptic encephalopathy, 42


Yersinia enterocolitica infectious disease


symptomatic form of hemophilia A in female carriers


neurodegeneration with brain iron accumulation 7


neuropathy, congenital hypomyelinating, 3


peroxisomal single enzyme/protein defect


autosomal recessive nonsyndromic hearing loss 35


inborn disorder of methionine cycle and sulfur amino acid metabolism


autosomal recessive limb-girdle muscular dystrophy type 2G


contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A


short-rib thoracic dysplasia 17 with or without polydactyly


gaze palsy, familial horizontal, with progressive scoliosis, 2


combined oxidative phosphorylation deficiency 47


basal ganglia calcification, idiopathic, childhood-onset


immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein


autosomal recessive pure spastic paraplegia


neurodevelopmental disorder with cerebellar atrophy and with or without seizures


fatal infantile hypertonic myofibrillar myopathy


intellectual disability, autosomal dominant 47


microcephaly 24, primary, autosomal recessive


foveal hypoplasia-presenile cataract syndrome


serine biosynthesis pathway deficiency, infantile/juvenile form


autosomal recessive secondary polycythemia not associated with VHL gene


short-rib thoracic dysplasia 21 without polydactyly


partial duplication of the long arm of chromosome 15


hypogonadotropic hypogonadism 15 with or without anosmia


spondyloepiphyseal dysplasia, nishimura type


syndactyly-telecanthus-anogenital and renal malformations syndrome


autosomal recessive nonsyndromic hearing loss 12


spondyloepimetaphyseal dysplasia, Krakow type


pharyngeal-cervical-brachial variant of Guillain-Barre syndrome


progressive microcephaly-seizures-cortical blindness-developmental delay syndrome


progressive bifocal chorioretinal atrophy


familial cold autoinflammatory syndrome 4


growth hormone insensitivity with immune dysregulation 1, autosomal recessive


deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


postaxial polydactyly type B, unilateral


intellectual disability, autosomal dominant 24


autosomal recessive nonsyndromic hearing loss 61


adrenocortical hypofunction, chronic primary congenital


agammaglobulinemia 2, autosomal recessive


mitochondrial complex 1 deficiency, nuclear type 18


acinar dysplasia caused by mutation in FGFR2


osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures


obesity due to pro-opiomelanocortin deficiency


retinal dystrophies primarily involving Bruch's membrane


persistent hyperplastic primary vitreous, autosomal recessive


tall stature-intellectual disability-renal anomalies syndrome


familial primary hypomagnesemia with hypocalcuria


Klippel-Feil syndrome 2, autosomal recessive


X-linked complicated spastic paraplegia type 1


congenital anomaly of cardiovascular system


qualitative or quantitative defects of dystrophin


acute myeloid leukemia, WT1 gene mutation


DDOST-congenital disorder of glycosylation


renal tubular dysgenesis due to twin-twin transfusion


lethal congenital glycogen storage disease of heart


X-linked intellectual disability-cubitus valgus-dysmorphism syndrome


acute myeloid leukemia, t(10;11)(p11.2;q23)


glycogen storage disease due to aldolase A deficiency


mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


mandibulofacial dysostosis with alopecia


congenital pulmonary airway malformation type 4


autosomal recessive nonsyndromic hearing loss 83


acute myeloid leukemia, monoallelic CEBPA gene mutation


absent thumb-short stature-immunodeficiency syndrome


scapuloperoneal spinal muscular atrophy, autosomal recessive


spastic ataxia-corneal dystrophy syndrome


X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


mitochondrial complex III deficiency, nuclear type


renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


spondyloepiphyseal dysplasia, Cantu type


familial partial lipodystrophy, Kobberling type


rheumatoid factor-positive polyarticular juvenile idiopathic arthritis


ciliary dyskinesia with excessively long cilia


HTRA1-related cerebral small vessel disease


toxocara canis infection (canine roundworms)


obesity due to congenital leptin deficiency


autosomal dominant isolated diffuse palmoplantar keratoderma


IgG4-related dacryoadenitis and sialadenitis


recombinase activating gene 1 deficiency


epidermolysis bullosa simplex 5C, with pyloric atresia


epidermolysis bullosa simplex 2C, localized


sleep disorder, initiating and maintaining sleep


developmental and epileptic encephalopathy, 24


undifferentiated pleomorphic sarcoma, inflammatory variant


palmoplantar keratoderma, nonepidermolytic, focal 1


Charcot-Marie-Tooth disease, demyelinating, type 1G


titinopathy with congenital contractures


Langerhans cell histiocytosis specific to childhood


infantile-onset generalized dyskinesia with orofacial involvement


46,XX disorder of sex development induced by fetoplacental androgens excess


calpain-3-related limb-girdle muscular dystrophy D4


vas deferens, congenital bilateral aplasia of, X-linked


leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


neonatal jaundice due to ABO incompatibility


relapsed/refractory diffuse large B-cell lymphoma


nystagmus, congenital, autosomal recessive


X-linked congenital stationary night blindness


intellectual disability, autosomal recessive 3


retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome


furuncular myiasis due to Cordylobia rodhaini


acute myeloid leukemia with t(8;21)(q22;q22) translocation


autosomal recessive nonsyndromic hearing loss 62


neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies


hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency


acute myeloblastic leukemia without maturation


autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation


deficiency of coenzyme q cytochrome c reductase


hereditary sensory neuropathy-deafness-dementia syndrome


spondylocostal dysostosis 1, autosomal recessive


autosomal recessive nonsyndromic hearing loss 7


microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome


alopecia - contractures - dwarfism - intellectual disability syndrome


rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies


neurometabolic disorder due to serine deficiency


X-linked intellectual disability, Cilliers type


autosomal dominant distal renal tubular acidosis


generalized epilepsy with febrile seizures plus, type 1


combined oxidative phosphorylation defect type 7


glycogen storage disease due to phosphoglycerate kinase 1 deficiency


acute myeloid leukemia, inv(16)(p13.3;q24.3)


acute myeloid leukemia and myelodysplastic syndromes related to radiation


qualitative or quantitative defects of selenoprotein N1


diaph1-related sensorineural hearing loss-thrombocytopenia syndrome


leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome


hydrocephalus, nonsyndromic, autosomal recessive 2


microcephaly 1, primary, autosomal recessive


neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities


muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15


neurodevelopmental disorder with spasticity and poor growth


branched-chain keto acid dehydrogenase kinase deficiency


silver-Russell syndrome due to 11p15 microduplication


combined oxidative phosphorylation deficiency 41


autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome


combined immunodeficiency due to MALT1 deficiency


acinar dysplasia caused by mutation in FGF10


macular dystrophy with central cone involvement


congenital stationary night blindness 1F


male infertility due to acephalic spermatozoa


symptomatic form of hemophilia B in female carriers


autoimmune lymphoproliferative syndrome type 4


hyper-IgE recurrent infection syndrome 1


acute myeloid leukemia, t(3;3)(q21.3;q26.2)


partial deletion of the long arm of chromosome 6


complex cortical dysplasia with other brain malformations 7


mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6


intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities


camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia


lissencephaly with cerebellar hypoplasia type B


frontotemporal dementia and/or amyotrophic lateral sclerosis 1


autosomal dominant nonsyndromic hearing loss 9


idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy


acute myeloid leukemia, MLL gene rearrangement


acquired aneurysmal subarachnoid hemorrhage


micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


mitochondrial complex V (ATP synthase) deficiency, nuclear type 1


benign paroxysmal tonic upgaze of childhood with ataxia


multifocal pattern dystrophy simulating fundus flavimaculatus


limbic encephalitis with neurexin-3 antibodies


type II complement component 8 deficiency


syndrome with synostosis or other joint formation defect


COL4A1 or COL4A2-related cerebral small vessel disease


Charcot-Marie-Tooth disease axonal type 2H


combined immunodeficiency with faciooculoskeletal anomalies


ventricular fibrillation, paroxysmal familial, type 1


spondylocostal dysostosis 3, autosomal recessive


hyper-IgE recurrent infection syndrome 4, autosomal recessive


multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome


mitochondrial complex 1 deficiency, nuclear type 12


autosomal recessive lymphoproliferative disease


intellectual disability, autosomal recessive 61


partial trisomy/tetrasomy of chromosome 9


severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome


spondyloepimetaphyseal dysplasia, matrilin-3 type


intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome


transposition of the great arteries, dextro-looped


sensorineural hearing loss-early graying-essential tremor syndrome


STT3A-congenital disorder of glycosylation


epidermolysis bullosa simplex with extracutaneous involvement


Charcot-Marie-Tooth disease recessive intermediate C


autosomal recessive nonsyndromic hearing loss 29


inborn disorder of the gamma-glutamyl cycle


DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion


mitochondrial complex III deficiency nuclear type 5


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation


agammaglobulinemia 7, autosomal recessive


mitochondrial complex 1 deficiency, nuclear type 33


ataxia - deafness - intellectual disability syndrome


rapidly progressive primary central nervous system vasculitis


diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome


dyskeratosis congenita, autosomal recessive 2


c11orf73-related autosomal recessive hypomyelinating leukodystrophy


neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures


intellectual disability, autosomal dominant 55, with seizures


mesial temporal lobe epilepsy with hippocampal sclerosis


hereditary sensory and autonomic neuropathy with deafness and global delay


retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies


severe X-linked intellectual disability, Gustavson type


Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;


multiple epiphyseal dysplasia, Al-Gazali type


developmental and epileptic encephalopathy, 57


congenital heart defects, multiple types, 2


inborn disorder of pentose phosphate metabolism


combined pituitary hormone deficiencies, genetic form


autosomal recessive distal spinal muscular atrophy 1


endometrioid stromal sarcoma of the vagina


palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome


X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome


short stature due to growth hormone qualitative anomaly


chromosome 3q29 microduplication syndrome


optic atrophy 10 with or without ataxia, intellectual disability, and seizures


disorder of mineral absorption and transport


autosomal recessive extra-oral halitosis


familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis


mitochondrial complex V (ATP synthase) deficiency nuclear type 4


hyperlipidemia due to hepatic triglyceride lipase deficiency


basal ganglia calcification, idiopathic, 7, autosomal recessive


acute encephalopathy with biphasic seizures and late reduced diffusion


idiopathic recurrent and disabling cutaneous herpes


developmental and epileptic encephalopathy, 35


neurodevelopmental disorder with cerebellar hypoplasia and spasticity


congenital merosin-deficient muscular dystrophy 1A


OPA1-related optic atrophy with or without extraocular features


congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome


autosomal recessive limb-girdle muscular dystrophy type 2H


mitochondrial DNA depletion syndrome 15 (hepatocerebral type);


autosomal recessive nonsyndromic hearing loss 23


acute myeloid leukemia, t(11;19)(q23.3;p13.3)


atypical hemolytic-uremic syndrome with thrombomodulin anomaly


myopathy, reducing body, X-linked, early-onset, severe


immunodeficiency 80 with or without congenital cardiomyopathy


partial deletion of the long arm of chromosome 11


melanoma, cutaneous malignant, susceptibility to, 3


syndromic X-linked intellectual disability Raymond type


acquired thrombotic thrombocytopenic purpura


isolated growth hormone deficiency type III


non-syndromic central nervous system malformation


palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome


neonatal period electroclinical syndrome


residual stage corticosteroid-induced glaucoma


autosomal dominant intermediate Charcot-Marie-Tooth disease


developmental and epileptic encephalopathy 101


ectodermal dysplasia with natal teeth, Turnpenny type


autosomal recessive isolated diffuse palmoplantar keratoderma


spondylometaphyseal dysplasia, Schmidt type


bone fragility with contractures, arterial rupture, and deafness


developmental and epileptic encephalopathy, 78


posterior polymorphous corneal dystrophy 2


double outlet right ventricle with subpulmonary ventricular septal defect


neurodevelopmental disorder with impaired speech and hyperkinetic movements


susceptibility to visceral leishmaniasis, 3


intellectual disability, autosomal recessive 50


congenital disorder of glycosylation, type IIw


intellectual disability-short stature-hypertelorism syndrome


arthrogryposis, renal dysfunction, and cholestasis 2


autosomal dominant osteosclerosis, Worth type


immunodeficiency-centromeric instability-facial anomalies syndrome 3


Charcot-Marie-Tooth disease axonal type 2L


microcephalic osteodysplastic dysplasia, Saul-Wilson type


cervical intraepithelial neoplasia grade 2/3


congenitally uncorrected transposition of the great arteries with cardiac malformation


immunodeficiency-centromeric instability-facial anomalies syndrome 1


autosomal dominant nonsyndromic hearing loss 18


PLG-related hereditary angioedema with normal C1inh


microcephalic primordial dwarfism due to ZNF335 deficiency


craniosynostosis intellectual disability heart defects


qualitative or quantitative defects of myotubularin


autosomal recessive nonsyndromic hearing loss 26


MOGS-congenital disorder of glycosylation


hereditary progressive chorea without dementia


ichthyosis, congenital, autosomal recessive 13


bile acid CoA:amino acid N-acyltransferase deficiency


Niemann-Pick disease type C, severe perinatal form


congenital absence of thigh and lower leg with foot present


disorder of sex development-intellectual disability syndrome


ganglion or cyst of synovium/tendon/bursa


partial duplication of the long arm of chromosome 10


familial episodic pain syndrome with predominantly upper body involvement


acute myeloid leukemia with multilineage dysplasia


peroxisome biogenesis disorder 8A (Zellweger)


neurodevelopmental disorder with microcephaly and structural brain anomalies


blepharophimosis - intellectual disability syndrome, Ohdo type


mitochondrial complex 4 deficiency, nuclear type 7


immunodeficiency 97 with autoinflammation


partial deletion of the short arm of chromosome 19


hereditary myopathy with lactic acidosis due to ISCU deficiency


Schistosoma intercalatum infectious disease


chronic thromboembolic pulmonary hypertension


spastic paraplegia 84, autosomal recessive


XY type gonadal dysgenesis-associated anomalies syndrome


anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive


autosomal systemic lupus erythematosus type 16


intralobar congenital pulmonary sequestration


isolated hereditary giant platelet disorder


amyotrophic lateral sclerosis-parkinsonism-dementia complex


alpha thalassemia-intellectual disability syndrome type 1


autosomal recessive complex spastic paraplegia type 9B


alopecia-intellectual disability syndrome 1


inborn disorder of purine or pyrimidine metabolism


localized dystrophic epidermolysis bullosa


secondary non-traumatic avascular necrosis


metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome


qualitative or quantitative defects of protein ZASP


autosomal recessive congenital ichthyosis 1


partial deletion of the long arm of chromosome 2


intellectual disability-obesity-brain malformations-facial dysmorphism syndrome


aldosterone-producing adenoma with seizures and neurological abnormalities


Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis


mitochondrial membrane transport disorder


peroxisome biogenesis disorder 2A (Zellweger)


charcot-marie-tooth disease, axonal, type 2DD


secretory apparatus of the lacrimal system anomaly


rhizomelic chondrodysplasia punctata type 3


mitochondrial complex 4 deficiency, nuclear type 11


acyl-CoA binding domain containing protein 5 deficiency


erythrokeratodermia variabilis et progressiva 6


partial deletion of the long arm of chromosome 4


autosomal recessive nonsyndromic hearing loss 9


palmoplantar keratoderma-spastic paralysis syndrome


autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome


developmental and epileptic encephalopathy, 38


ectodermal dysplasia 15, hypohidrotic/hair type


intellectual disability, autosomal recessive 30


disorder of neutral amino acid transport


hidrotic ectodermal dysplasia, Halal type


Charcot-Marie-Tooth disease, axonal, Type 2HH


disorder of beta and omega amino acid metabolism


pyoderma gangrenosum-acne-suppurative hidradenitis syndrome


microcephaly 12, primary, autosomal recessive


generalized epilepsy-paroxysmal dyskinesia syndrome


moderate multiminicore disease with hand involvement


idiopathic non-lupus full-house nephropathy


severe congenital hypochromic anemia with ringed sideroblasts


cerebellar ataxia-ectodermal dysplasia syndrome


neonatal-onset developmental and epileptic encephalopathy


non-classic congenital adrenal hyperplasia


severe combined immunodeficiency due to CARMIL2 deficiency


IgG4-related submandibular gland disease


drug rash with eosinophilia and systemic symptoms


acute myeloid leukemia, biallelic CEBPA gene mutation


MELAS syndrome caused by mutation in MTTS2


epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive


autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation


absence of fingerprints-congenital milia syndrome


cone dystrophy with supernormal rod response


primary familial polycythemia due to EPO receptor mutation


gamma-amino butyric acid metabolism disorder


generalized peeling skin syndrome type C


mixed epithelioid and spindle cell melanoma


immunodeficiency 91 and hyperinflammation


neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities


acute myeloid leukemia with 11q23 abnormalities


autosomal dominant nonsyndromic hearing loss 67


urea cycle disorder or inherited hyperammonemia


glycogen storage disease due to lactate dehydrogenase M-subunit deficiency


epidermolysis bullosa simplex without extracutaneous involvement


autosomal recessive congenital ichthyosis 7


glycosylphosphatidylinositol biosynthesis defect 18


aggressive primary cutaneous T-cell lymphoma


microcephalic osteodysplastic primordial dwarfism types I and III


multiple system atrophy, parkinsonian type


encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome


neurodevelopmental disorder with seizures and speech and walking impairment


spondylocostal dysostosis 4, autosomal recessive


microcephalic osteodysplastic primordial dwarfism type I


syndromic X-linked intellectual disability Najm type


brainstem intraparenchymal clear cell meningioma


progressive supranuclear palsy-parkinsonism syndrome


severe early-childhood-onset retinal dystrophy


familial cold autoinflammatory syndrome 1


encephalopathy due to mitochondrial and peroxisomal fission defect


hypothalamic hamartomas with gelastic seizures


MELAS syndrome caused by mutation in MTTK


secondary progressive multiple sclerosis


mitochondrial DNA depletion syndrome 16 (hepatic type)


hypercholesterolemia, autosomal dominant, type B


hereditary site-specific ovarian cancer syndrome


severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome


classic complement early component deficiency


intellectual disability, autosomal dominant 5


kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome


developmental and epileptic encephalopathy 96


facial dysmorphism-shawl scrotum-joint laxity syndrome


congenital bilateral aplasia of vas deferens from CFTR mutation


cerebral palsy, ataxic, autosomal recessive


primary immunodeficiency due to a defect in adaptive immunity


overgrowth or tall stature syndrome with skeletal involvement


neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities


developmental and epileptic encephalopathy, 39


chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant


spondyloepimetaphyseal dysplasia, Genevieve type


digitotalar dysmorphism; ulnar drift, hereditary


congenital hypothyroidism due to maternal intake of antithyroid drugs


spondylometaphyseal dysplasia, Kozlowski type


indeterminate sex and/or pseudohermaphroditism


microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome


childhood-onset autosomal recessive myopathy with external ophthalmoplegia


neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive


qualitative or quantitative defects of filamin C


neuronopathy, distal hereditary motor, type 2A


spondylometaphyseal dysplasia, pagnamenta type


partial duplication of the short arm of chromosome 1


intellectual disability, autosomal recessive 1


polyposis, intestinal, scattered and discrete


autosomal dominant nonsyndromic hearing loss 47


pterin-4 alpha-carbinolamine dehydratase 1 deficiency


bilateral parasagittal parieto-occipital polymicrogyria


acute myeloid leukemia, KRAS gene mutation


malignant Sertoli-Leydig cell tumor of ovary


X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome


osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome


developmental and speech delay due to SOX5 deficiency


infantile-onset autosomal recessive nonprogressive cerebellar ataxia


autosomal recessive spastic paraplegia type 70


hereditary inclusion body myopathy type 4


contractures-developmental delay-Pierre Robin syndrome


intellectual disability-obesity-prognathism-eye and skin anomalies syndrome


intellectual developmental disorder, X-linked, syndromic, Pilorge type


craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome


autosomal dominant nonsyndromic hearing loss 56


autosomal recessive nonsyndromic hearing loss 30


hypoparathyroidism, familial isolated, 2


Anti-neutrophil cytoplasmic antibody-associated vasculitis


lip herpes simplex type 2 infectious disorder


X-linked intellectual disability, Seemanova type


disseminated intravascular coagulation in newborn


dysmorphism-short stature-deafness-disorder of sex development syndrome


isolated lissencephaly type 1 without known genetic defects


infantile choroidocerebral calcification syndrome


mitochondrial complex 2 deficiency, nuclear type 4


mitochondrial DNA depletion syndrome, myopathic form


developmental and epileptic encephalopathy, 67


prelingual non-syndromic genetic hearing loss


fallot complex-intellectual disability-growth delay syndrome


erythrokeratodermia variabilis et progressiva 2


autosomal dominant nonsyndromic hearing loss 2B


obesity due to prohormone convertase I deficiency


developmental and epileptic encephalopathy 102


acute myeloid leukemia by FAB classification


feline acquired immunodeficiency syndrome


qualitative or quantitative defects of troponin


factor V short isoforms-related bleeding disorder


MELAS syndrome caused by mutation in MTND6


intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome


acute myeloid leukemia, inv(16)(p13.1;q22)


neurodevelopmental disorder with seizures and brain atrophy


mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome


epileptic encephalopathy, infantile or early childhood, 3


partial deletion of the short arm of chromosome 6


frontotemporal dementia and/or amyotrophic lateral sclerosis 8


congenital disorder of glycosylation with defective fucosylation 2


epidermolysis bullosa simplex 1B, generalized intermediate


facioscapulohumeral muscular dystrophy 3, digenic


malignant melanocytic neoplasm of the peripheral nerve sheath


benign connective and soft tissue neoplasm


classic paraneoplastic limbic encephalitis


intellectual developmental disorder, autosomal recessive 73


severe combined immunodeficiency due to IKK2 deficiency


developmental and epileptic encephalopathy, 1


hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation


partial duplication of the short arm of chromosome 19


twin reversal arterial perfusion syndrome


thrombophilia due to protein S deficiency, autosomal recessive


distal hereditary motor neuropathy type 7


tibia, hypoplasia or aplasia of, with polydactyly


neuropathy, hereditary sensory and autonomic, type 2A


multiple system atrophy, cerebellar type


frontotemporal dementia, right temporal atrophy variant


Pelizaeus-Merzbacher disease, connatal form


alopecia-intellectual disability syndrome 2


hereditary sensorimotor neuropathy with hyperelastic skin


qualitative or quantitative defects of delta-sarcoglycan


hypogonadotropic hypogonadism 10 with or without anosmia


autosomal dominant nonsyndromic hearing loss 54


mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders


isolated asymptomatic elevation of creatine phosphokinase


acute myeloid leukemia, loss of chromosome 17p


infection due to clostridium perfringens


lissencephaly with cerebellar hypoplasia type D


pauci-immune glomerulonephritis with ANCA


neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia


radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome


intellectual disability, autosomal recessive 24


Prader-Willi syndrome due to translocation